Cystinuria: Genetic Aspects and Novel Pharmacotherapeutics

Cystinuria: a new genetic variant.

1. A family is reported with an unusual type of cystinuria. 2. The propositus presented with a cystine renal stone; the renal tubular reabsorption of cystine was grossly abnormal but the tubular reabsorption of ornithine, lysine and arginine was only slightly less than normal. 3. One of the children of the propositus escreted cystine and lysine in increased amounts typical of type II heterozygo...

Molecular and genetic aspects of odontogenic tumors: a review

Odontogenic tumors contain a heterogeneous collection of lesions that are categorized from hamartomas to benign and malignant neoplasms of inconstant aggressiveness. Odontogenic tumors are usually extraordinary with assessed frequency of short of 0.5 cases/100,000 population for every year. The lesions such as odontogenic tumors are inferred from the components of the tooth-structuring contrapt...

Inm-4: Genetic Aspects of Male and Female Infertility

Genetic causes can be directly responsible for various clinical conditions of male and female infertility and genetic variability may affect the ability to reproduce. This review aims to summarize current research on genetic diagnosis and genetic causes of reproductive disorders. Chromosome abnormalities account for 60% of all spontaneous abortions, and the most common type, trisomy, is closely...

Cystinuria and renal transplantation.

Cystinuria—Diagnosis and Management

Cystinuria is an autosomal recessive disorder of cystine and dibasic amino acid transport across the luminal membrane of proximal tubule and small intestine. Two responsible genes have been identified: mutations in the SLC3A1 gene, located on the chromosome 2p, cause cystinuria type I, while variants in SLC7A9 have been demonstrated in nontype I cystinuria. The poor urinary solubility of cystin...